Product Details

SNP ID

rs199765619

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:112283788 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATCTTTGCAGAAGCCTCTGCAAA[A/C]TCGTGTGCTCCAAATAAAGCAGGTA

Phenotype

MIM: 602653

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

TECTB PubMed Links

Gene Details

Gene

TECTB

Gene Name

tectorin beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_058222.2	127	Missense Mutation	AAA,AAC	K18N	NP_478129.1
XM_017016604.1	127	Missense Mutation	AAA,AAC	K18N	XP_016872093.1

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